Women in Science Victor Chang Institute

Celebrating women in science

"I feel like I’m in quite a privileged position to be studying my own disease. And the best part is being able to work on something that could help out people in a similar sort of position that I was."

As a medical student, Connie Jiang, never imagined she'd be shortlisted for the prestigious Ralph Reader science prize. Her transition from the hospital to the laboratory was full of surprising opportunities, including the chance to study the same heart disease she was diagnosed with as a teenager.

Medical student Connie Jiang in the Institute's Innovation Centre

Congratulations on being shortlisted for the Ralph Reader Prize! What does this mean to you?

To be honest, I wasn't expecting this at all. We sent our abstracts into the Ralph Reader Prize for Young Investigators which is organised by the Cardiac Society of Australia and New Zealand, and I was lucky enough to be chosen. So what that means is I'll be doing a presentation at the opening of the CSANZ conference in August and I’ll get to share our work with the community.

Can you briefly explain your research please?

Genetic testing is becoming more and more frequent and it's a way that we can both diagnose patients and confirm a diagnosis, especially inherited conditions. My project is focusing on long QT syndrome type two, which is a rare cardiac arrhythmic disorder. It's caused by a change in the KCNH2 gene which normally encodes the potassium ion channel. If there's a disruption to the functioning of an ion channel, it can result in abnormal heart rhythm and that can lead to a person blacking out and even possibly cardiac death. It's a very serious condition. The problem is people who have a mutation might not know they have the disease because they're asymptomatic until that potentially fatal cardiac event. The hope of my project is to help improve the yield of genetic testing, to boost diagnosis rates, and to help patients become more aware of their condition. I’m currently a fifth year medical student, training to be a Clinician so I’ve seen the devastating effects that a cardiac arrest can have on a person and their family.

As a medical student, why did you make the uncommon decision to undertake a project in the laboratory?

At UNSW we have an IOP research year in fourth year where we just get to go off and choose a project to work on for the year. Prior to fourth year, I had a little bit of experience with lab work at the ANZAC Institute near Concord hospital and I really enjoyed it. For my honours year, I was interested in again doing a lab research project and it just so happened that I had an interest in cardiology and arrhythmia. My sister had a heart condition and I was screened too and then they found out by accident that I had long QT during an ECG about ten years ago. So when I was looking for a research project I was automatically drawn to the cardiac research. By chance I was able to find Professor Jamie Vandenberg who specialises in cardiac arrythmias and long QT. From that first meeting we had, I felt like my mind was just set. The research project sounded really fun and interesting.

Knowing that there are people out there undiagnosed who are at risk of sudden death from a condition that you suffer from, how do you feel about that?

It’s confronting so it’s good to be proactively doing something. Long QT is what we call a rare disease, it's got a prevalence of less than one in 2000. The problem with rare diseases is that you probably don't hear about these conditions as much. I think it's important that research is conducted into rare diseases, especially if there’s a genetic origin, because there will always be people who will benefit from it. With a cardiac condition like long QT, it will probably change the life of a patient and as well as their family’s life. It's important that first of all, the condition is picked up accurately and secondly, we can offer as much information as possible to patients and families. If it is picked up early, there are treatments available such as, beta blockers and cardiac defibrillators. The challenge is detecting the disease more so than treating it.

And you're hopeful that your research will do that?

Yes. Obviously there's a lot of other work that must be done, but I hope that it will play its part. We’ve just had a paper published in the American Journal of Human Genetics. It’s part of a series of papers we’ve been working on, showing how functional assays or lab assays can shed light on the results of genetic testing for patients. We’ve basically developed a new electrical screening test for those at risk of sudden cardiac arrest linked to long QT.

Dr Chai Ng, Connie Jiang and Professor Jamie Vandenburg

You must be excited to have a paper published as an honours student.

Very! This is probably one of the best outcomes I could've hoped for.

Earlier you said you've had a little bit of lab experience, but what was it like switching from a medical workplace to the lab?

I signed up to it expecting a bit of a challenge and it was. I'm not the best with my hands, but I think my co supervisor really helped me to train in the cell culture stuff. Using good old flasks, culturing the cells etcetera. I got to see all sorts of other techniques being used. The transition, to be honest wasn't as jarring as I expected. There's this belief among the med students that our fourth year research year can be a bit more lonely compared to our other years because you are going off by yourself, working in more solitude. But to my surprise, that wasn't at all the case with my research year. And part of it was because of good support offered by my supervisors, Professor Vandenberg and Andy Ng, but also there were a lot of other students around too. We had three other honour students in our lab and it was just a really good time we had together.

How valuable do you think basic science is for medical students?

The answer would be very valuable. I think at least in our degree, there's quite a bit of focus on basic science in the early years, because that's the basis upon which you build your clinical knowledge. It allows you to explain what's going on and why, and importantly, in real life, basic science is needed to discover new therapies and, in this case, impact the diagnostic treatment pathways. So it's like the basis upon which everything else is built, I feel. There are challenges in basic research. It doesn't always go the way you want, but I think nevertheless, we need it.

Would you encourage other medical students to undertake a similar lab based project?

Yes I think it was an incredible environment for learning. What I found in the lab at the Victor Chang Cardiac Research Institute is that I ended up getting a lot of exposure to several areas of research. Whilst my focus was in functional genomics or the genetic side, we also got to see computational, structural, and even pluripotent stem cell research in the lab. I was attending lab meetings, seminars and extra conferences. It was a really enriching experience. Because my research project was at an intersection of different fields, I think it really helped to paint a broader picture of where everything fits. To anyone out there thinking about doing something like this, don’t be afraid to just have a go, if you’re interested in research give it a go!

Acknowledgement of Country

The Victor Chang Cardiac Research Institute acknowledges the traditional custodians of the land, the Gadigal of the Eora nation, on which we meet, work, and discover.
Our Western Australian laboratories pay their respect to the Whadjuk Noongar who remain as the spiritual and cultural custodians of their land.